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Variant (rsID / SNP)

rs121912665

TP53

rs121912665 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TP53. Location: chromosome 17, position 7,578,283. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TP53Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
17:7578283
Cytoband
17p13.1
HGVS
NM_000546.6(TP53):c.566C>T (p.Ala189Val)
Allele change
Missense_A57V

Associated conditions / phenotypes

Familial colorectal cancer|Hereditary cancer-predisposing syndrome|Li-Fraumeni syndrome 1|Li-Fraumeni syndrome|Hereditary breast ovarian cancer syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.